Linked Data
ClinVar Variation Id:
1145870
ClinVar RCV Id:
RCV001484918
dbSNP Id:
rs370551367
ExAC:
15:43695889 C / T
gnomAD v2:
15-43695889-C-T
gnomAD v3:
15-43403691-C-T
gnomAD v4:
15-43403691-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43403691C>T , CM000677.2:g.43403691C>T | GRCh38 |
| NC_000015.9:g.43695889C>T , CM000677.1:g.43695889C>T | GRCh37 |
| NC_000015.8:g.41483181C>T | NCBI36 |
| NG_042168.1:g.37633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382044.9:c.*3692G>A (TP53BP1) MANE Select | ENSP00000371475.5:n.*3692G>A | |
| ENST00000564079.6:c.1740C>T (TUBGCP4) MANE Select | ENSP00000456648.2:p.His580= | |
| ENST00000260383.11:c.1743C>T (TUBGCP4) | ENSP00000260383.7:p.His581= | |
| ENST00000382044.8:c.*3692G>A (TP53BP1) | ENSP00000371475.4:n.*3692G>A | |
| ENST00000561691.5:c.1562C>T (TUBGCP4) | ||
| ENST00000563147.5:c.364-722C>T (TUBGCP4) | ENSP00000454915.1:n.364-722C>T | |
| ENST00000563963.1:n.4009C>T (TUBGCP4) | ||
| ENST00000564079.5:c.1740C>T (TUBGCP4) | ENSP00000456648.1:p.His580= | |
| ENST00000565548.1:c.54C>T (TUBGCP4) | ENSP00000456550.1:p.His18= | |
| ENST00000566251.1:c.42C>T (TUBGCP4) | ENSP00000455555.1:p.His14= | |
| NM_001286414.1:c.1743C>T (TUBGCP4) | NP_001273343.1:p.His581= | |
| NM_001286414.2:c.1743C>T (TUBGCP4) | NP_001273343.1:p.His581= | |
| NM_014444.3:c.1740C>T (TUBGCP4) | NP_055259.2:p.His580= | |
| NM_014444.4:c.1740C>T (TUBGCP4) | NP_055259.2:p.His580= | |
| XM_005254635.3:c.*3692G>A (TP53BP1) | XP_005254692.1:n.*3692G>A | |
| XM_011521453.1:c.1692C>T (TUBGCP4) | XP_011519755.1:p.His564= | |
| XM_011521454.1:c.1735-722C>T (TUBGCP4) | XP_011519756.1:n.1735-722C>T | |
| XM_011521455.1:c.1335C>T (TUBGCP4) | XP_011519757.1:p.His445= | |
| XM_011521984.1:c.*3692G>A (TP53BP1) | XP_011520286.1:n.*3692G>A | |
| XM_011521985.1:c.*3692G>A (TP53BP1) | XP_011520287.1:n.*3692G>A | |
| XR_243092.2:n.2102C>T (TUBGCP4) | ||
| NM_001141979.2:c.*3692G>A (TP53BP1) | NP_001135451.1:n.*3692G>A | |
| NM_001141980.2:c.*3692G>A (TP53BP1) | NP_001135452.1:n.*3692G>A | |
| NM_001355001.1:c.*3692G>A (TP53BP1) | NP_001341930.1:n.*3692G>A | |
| NM_005657.3:c.*3692G>A (TP53BP1) | NP_005648.1:n.*3692G>A | |
| XM_011521454.3:c.1735-722C>T (TUBGCP4) | XP_011519756.1:n.1735-722C>T | |
| XM_011521455.2:c.1335C>T (TUBGCP4) | XP_011519757.1:p.His445= | |
| XM_011521985.2:c.*3692G>A (TP53BP1) | XP_011520287.1:n.*3692G>A | |
| XM_017022078.2:c.1732-722C>T (TUBGCP4) | XP_016877567.1:n.1732-722C>T | |
| XR_001751226.2:n.2077-722C>T (TUBGCP4) | ||
| XR_001751382.2:n.9907G>A (TP53BP1) | ||
| XR_243092.4:n.2085C>T (TUBGCP4) | ||
| NM_001141979.3:c.*3692G>A (TP53BP1) | NP_001135451.1:n.*3692G>A | |
| NM_001141980.3:c.*3692G>A (TP53BP1) MANE Select | NP_001135452.1:n.*3692G>A | |
| NM_001286414.3:c.1743C>T (TUBGCP4) | NP_001273343.1:p.His581= | |
| NM_001355001.2:c.*3692G>A (TP53BP1) | NP_001341930.1:n.*3692G>A | |
| NM_005657.4:c.*3692G>A (TP53BP1) | NP_005648.1:n.*3692G>A | |
| NM_014444.5:c.1740C>T (TUBGCP4) MANE Select | NP_055259.2:p.His580= |